Background: Sarcomas, a heterogenous group of malignancies consisting of tumors, are rarely encountered in most general oncology clinics. As a result, most general oncologists have very little experience in dealing with these tumors and resulting in poorer treatment and survival outcomes. Having successful collaborative efforts in research, the Asian Sarcoma Consortium (ASC) pioneered a Sarcoma Preceptorship Program with its main goal of increasing awareness of the multidisciplinary approach in the management of sarcomas. Objective: The objective of this study is to evaluate the ASC Sarcoma Preceptorship Program using the first 2 levels of the Kirkpatrick Evaluation Model: Level 1) Reaction – through using satisfaction surveys; and Level 2) Knowledge – focusing on the amount of information gained from the activity evaluated by test-retest method. Methods: The 2-day preceptorship program held in Singapore utilized educational activities such as didactic lectures, multidisciplinary case discussions, and case presentations. The program was evaluated using: 1) pre-test and posttest; 2) satisfaction survey from ASC; and 3) satisfaction survey made by the sponsor, Novartis Pharma. Results: The preceptorship program enrolled 30 participants, most from the Asia-Pacific region. The overall results from the satisfaction surveys were generally optimistic, with results showing high levels of satisfaction with regard to the time allotment, scope of topics, and how helpful each session was. Test results showed that participants scored lower in post-test as compared to the pre-test. Computation of the Coefficient of Test reliability showed that although the pre-test was highly reliable, this was not true of the post-test. Conclusions Based on the Level 1 evaluation, the program was successful in terms of both participant and faculty satisfaction. However, certain areas for improvement were identified and recommendations were made in order to effect improvements for future iterations of this preceptorship.
soft tissue sarcoma ; clinical preceptorship

OBJECTIVE: To summarize the clinical features and spectrum of genetic variants in 12 patients with Loeys-Dietz syndrome (LDS), and to explore the correlation between the type of genetic variants and clinical phenotypes. METHODS: Twelve patients suspected for LDS at Beijing Anzhen Hospital Affiliated to Capital Medical University from January 2015 to January 2022 were selected as the study subjects. Clinical data of the patients were collected. Genomic DNA was extracted from peripheral blood samples and subjected to genetic testing. Pathogenicity of candidate variants was analyzed. RESULTS: The clinical phenotypes of the 12 patients have mainly included cardiovascular, musculoskeletal, craniofacial, skin, ocular and other systemic signs. Four patients (patients 5-1, 5-2, 6, 7) have carried heterozygous missense variants of the TGFBR1 gene, 5 patients (patients 1-1, 1-2, 2, 3, 4) have carried heterozygous variants of the TGFBR2 gene, and 2 patients (patients 8-1, 8-2) had carried heterozygous frameshift variants of the TGFB3 gene. One patient (patient 9) had carried a heterozygous missense variant of the SMAD3 gene. Among these, TGFBR1 c.603T>G (p.1201M) and TGFB3 c.536delA (p.H179FS35) had not been reported previously. CONCLUSION Variants of the TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3 and SMAD2 genes are mainly associated with LDS. The severity of the disease phenotype caused by the same variant may vary, whilst the clinical phenotype caused by different variant sites may be specific.
Humans ; Loeys-Dietz Syndrome/genetics* ; Receptor, Transforming Growth Factor-beta Type I/genetics* ; Receptor, Transforming Growth Factor-beta Type II/genetics* ; Transforming Growth Factor beta3 ; Face

Objective:To investigate the differences of umbilical vein diameter(D), time average peak velocity(TAmax) and blood flow between congenital heart disease and normal fetus.Methods:The umbilical vein diameter and time average peak velocity of 69 fetuses with congenital heart disease (disease group) from 22 to 27 weeks were prospectively studied in Maternal-Fetal Medical Center in Fetal Heart Disease of Beijing Anzhen Hospital from May 2021 to September 2021. Q 1 (umbilical venous blood flow) was calculated according to the formular [Q=0.5TAmax·π·(D/2) 2)], and Q 2 (Q 2=Q 1/weight) was calculated according to the fetal weight. At the same time, 111 normal fetuses with matched gestational age were selected as control group. The differences of fetal umbilical vein D, TAmax, Q 1 and Q 2 between the two groups were analyzed. Results:The inner diameter of umbilical vein D, TAmax, Q 1 and Q 2 in the congenital heart disease group were lower than those in the control group(all P<0.05). In the control group, the inner diameter of umbilical vein D, TAmax and Q 1 increased with the increase of gestational age and showed a positive linear correlation( r=0.608, 0.320, 0.626; all P≤0.001), while there was no obvious linear correlation between Q 2 and gestational age( r=0.189, P=0.047). Conclusions:The decrease of umbilical vein D, TAmax, Q 1 and Q 2 in the fetus with congenital heart disease indicates the decrease of effective blood flow in placenta-fetus circulation, which indirectly reflects the decrease of placental function in the fetus with congenital heart disease.

Objective:To summarize the etiological mechanism, echocardiographic and clinical features of fetal cardiomyopathies (FCMs).Methods:According to the data of echocardiography in Maternal-Fetal Medicine Center in Fetal Heart Disease of Beijing Anzhen Hospital during 2015 January to 2020 December, 70 cases with FCMs were retrospectively reviewed, and the clinical, ultrasonic, pathological and clinical outcome data were collected. Whole exome sequencing and whole genome sequencing were used to identify the genetic changes.Results:Primary FCMs were diagnosed in 55 cases (78.6%, 55/70), including 39 fetuses with non-compaction of the ventricular myocardium (NVM), 10 with dilated cardiomyopathy (DCM), 5 with hypertrophic cardiomyopathy (HCM), and 1 with restricted cardiomyopathy (RCM). Secondary FCMs were diagnosed in 15 cases (21.4%, 15/70), including 7 fetuses with maternal anti-Ro/La antibodies (presenting with DCM), 4 with twin-twin transfusion syndrome (2 with DCM and 2 with HCM), 2 with fetal anemia (presenting with DCM), 1 with maternal diabetes (presenting with HCM) and 1 with chorioangioma of the placenta (presenting with DCM). In all cases, 9 cases were born, 3 cases died in perinatal period, and 58 pregnancies were terminated due to ineffective treatment or the decisions of pregnant women. Thirty cases with primary FCMs were performed with genetic tests, and 13 of them were identified with positive genetic changes related to FCMs, including 12 cases with NVM and 1 with HCM.Conclusions:Primary FCMs are more common than secondary FCMs in fetal period. The genetic disorders have a high proportion in fetal NVM. Fetal DCM and HCM have a large spectrum of intrinsic and extrinsic causes.

Objective:To explore the changes of biparietal diameter, head circumference and cerebrovascular hemodynamics in fetuses with hypoplastic left heart syndrome (HLHS) during middle pregnancy.Methods:The biparietal diameter, head circumference, middle cerebral artery pulsatility index (MCA-PI), umbilical artery pulsatility index (UA-PI) and MCA-PI/UA-PI (CPR) of 41 fetuses with HLHS(HLHS group) were retrospectively analyzed from January 2015 to December 2019 in Beijing Anzhen Hospital, and were compared with those of 82 normal fetuses matched for gestational age at the same period (control group).Results:The Z-scores of head circumference, MCA-PI and CPR in with HLHS group were lower than in control group(all P<0.05); Head circumference in HLHS group were weakly and positively correlated with the MCA-PI and CPR ( r=0.385, 0.416; all P<0.05). Conclusions:There are some changes in the head circumference and cerebral hemodynamics in fetuses with HLHS during mid-gestational age, and the head circumference is weakly and positively correlated with MCA-PI and CPR, which has clinical significance.

Objective:To understand the genetic variations of the coding gene of the main neutralizing antigen VP7 of G9 group A rotavirus in Xiamen area and the difference between VP7 gene in some domestic and broad areas. Methods:Four types G9 group A rotavirus strains were collected from feces of children with diarrhea in Xiamen Children′s Hospital. The time of collection was October 5, 2017, November 12, 2017, December 7, 2017 and January 15, 2018, respectively. The full-length sequence of type G9 group A rotavirus VP7 gene was obtained by reverse transcription polymerase chain reaction, and the homology, phylogenetic and amino acid sequence alignment were analyzed by using DNA Star, MEGA and other biological software. Results:Phylogenetic tree analysis showed that the local strain of Amoy CHINA/2018 in Xiamen area and the human/SC7/CHN/2013/G9 local strain in Chengdu City had the most closely relationship in the evolutionary tree clusters, and the homology was far from the Hu/JS2016 local strain in Jiangsu Province. The amino acid sequence analysis showed that compared with the reference strain WI61, the Xiamen local strains had variations in the amino acid primary structure, including D100N and Y144H, which were representative mutation sites in the Amoy CHINA/2018 phylogenetic tree cluster.Conclusion:The full-length genome sequence of the type G9 group A rotavirus VP7 shows that the strain is mutated in China.

Objective:To investigate the value of artificial intelligence in screening normal or abnormal four-chamber view of the fetal heart.Methods:Selecting 3 996 pictures of normal and abnormal end systolic four chamber views and 450 video clips from the database of Beijing Key Laboratory of Fetal Heart Disease Maternal and Fetal Medicine Research in Beijing Anzhen Hospital as training set, test set and verification set to train, test and verify DGACNN model. ①Comparing DGACNN, DGACNN-ALOCC and other classification models(Densenet, Resnet50, InceptionV3, InceptionResnetV2) to detect the model with the most advanced level by recognizing 200 normal pictures and 200 abnormal pictures. ②Fetal echocardiographers were divided into three groups according to their experiences: primary, intermediate and advanced, 3 doctors in each group, and comparing the average score between each group or three groups and DGACNN by recognizing 100 normal pictures and 100 abnormal pictures.Results:①When the the false positive rate(FPR) was in the range of 20%, the recognition accuracy of DGACNN was the highest with 0.850, the recognition accuracy of other models were DGACNN-ALOCC 0.835, Densenet 0.780, Resnet50 0.700, InceptionV3 0.670, InceptionResnetV2 0.650, respectively. ②When FPR was in the range of 20%, the area under ROC curve of DGACNN was the largest with 0.881, the area under ROC curve of other models were DGACNN-ALOCC 0.864, Densenet 0.850, Resnet50 0.822, Inceptionv3 0.779, InceptionResnetV2 0.703, respectively. ③When the FPR was in the range of 20%, the average recognition accuracy of the senior fetal echocardiographer group was the highest with 0.863, followed by DGACNN 0.840, which was higher than the average recognition accuracy of the primary and intermediate groups with 0.760, 0.807; the average recognition accuracy of DGACNN was higher than the total average recognition accuracy of the primary, intermediate and advanced groups with 0.810.Conclusions:Artificial intelligence is accessible in screening four chamber view of fetal echocardiography, with high recognition accuracy.

Objective:To investigate the value of post left atrium space index (PLASI) in the diagnosis of fetal isolated total anomalous pulmonary venous connection (TAPVC).Methods:Twenty-six cases of fetal isolated TAPVC were retrospectively analyzed as the TAPVC group and 243 normal fetuses were selected as the control group from October 2012 to April 2019 in the Consultation Center of Maternal-Fetus Medicine in Fetal Heart Disease in Beijing An Zhen Hospital. The width of the PLAS and the diameter of the descending aorta were measured in the four chamber view, and then the PLAS index (PLASI) (the width of the PLAS/the diameter of the descending aorta) was calculated. The relationships between the width of PLAS, the diameter of descending aorta and the PLASI and gestational age were analyzed. The difference of the PLASI between isolated TAPVC group and control group was analyzed, and ROC curve was used to analyze the sensitivity and specificity in identifying the isolated TAPVC fetuses and normal fetuses.Results:In the 243 normal fetuses in control group, both the width of the PLAS and the diameter of the descending aorta increased with gestational age ( r s=0.362, 0.648, P<0.05). There was no statistically significant correlation between the PLASI and gestational age ( r s=-0.065, P>0.05). The PLAS and the PLASI in isolated TAPVC group were all significantly higher than those in control group ( t=26.31, 34.90, P<0.01). Based on the ROC curve analysis, when the cutoff value was set to 3.6 mm, the sensitivity and specificity of PLAS in identifying isolated TAPVC and normal fetuses were 97.5% and 100%, respectively. When the cutoff value was set to 1.1, the sensitivity and specificity of PLASI in identifying isolated TAPVC and normal fetuses were 100% and 100%, respectively. Conclusions:The PLASI is a sensitive parameter in identifying the isolated TAPVC, which is helpful for the rapid screening of the isolated TAPVC.

Background: Sarcomas, a heterogenous group of malignancies consisting of tumors, are rarely encountered in most general oncology clinics. As a result, most general oncologists have very little experience in dealing with these tumors and resulting in poorer treatment and survival outcomes. Having successful collaborative efforts in research, the Asian Sarcoma Consortium (ASC) pioneered a Sarcoma Preceptorship Program with its main goal of increasing awareness of the multidisciplinary approach in the management of sarcomas. Objective: The objective of this study is to evaluate the ASC Sarcoma Preceptorship Program using the first 2 levels of the Kirkpatrick Evaluation Model: Level 1) Reaction – through using satisfaction surveys; and Level 2) Knowledge – focusing on the amount of information gained from the activity evaluated by test-retest method. Methods: The 2-day preceptorship program held in Singapore utilized educational activities such as didactic lectures, multidisciplinary case discussions, and case presentations. The program was evaluated using: 1) pre-test and posttest; 2) satisfaction survey from ASC; and 3) satisfaction survey made by the sponsor, Novartis Pharma. Results: The preceptorship program enrolled 30 participants, most from the Asia-Pacific region. The overall results from the satisfaction surveys were generally optimistic, with results showing high levels of satisfaction with regard to the time allotment, scope of topics, and how helpful each session was. Test results showed that participants scored lower in post-test as compared to the pre-test. Computation of the Coefficient of Test reliability showed that although the pre-test was highly reliable, this was not true of the post-test. Conclusions Based on the Level 1 evaluation, the program was successful in terms of both participant and faculty satisfaction. However, certain areas for improvement were identified and recommendations were made in order to effect improvements for future iterations of this preceptorship.
Sarcoma

Objective To investigate the predictive role of the intraoperative amylase ( IOA ) from pancreatic stump for postoperative pancreatic fistula. Methods The clinical data of 26 patients who received distal pancreatectomy ( DP) and central pancreatectomy ( CP) in the Shanghai Ruijin Hospital from June 2017 to July 2018 were retrospectively analyzed. IOA and peri-operative potential clinical factors associated with pancreatic fistula were analyzed. Receiver operating characteristics ( ROC) curve was drawn to evaluate the diagnostic efficacy of IOA from pancreatic stump in predicting postoperative pancreatic fistula, and the sensitivity and specificity were calculated. Results Of 26 patients, 19 patients underwent DP and 7 patients underwent CP. 9 patients (34.6％,9/26)had class A pancreatic fistula (biochemical leak) and 11 patients (42. 3％,11/26) had class B pancreatic fistula after surgery, and no class C pancreatic fistula occurred. Univariate analysis showed that IOA from pancreatic stump in clinically relevant pancreatic fistula group was higher than that in clinically irrelevant pancreatic fistula group(7971. 82 ± 4387. 98 vs 1589. 20 ± 1405. 00, P=0. 001). Area under the curve ( AUC) of IOA in predicting the development of clinically relevant pancreatic fistula after surgery was 0. 921 and 95％ confidential interval was 0. 807-1. 000. The optimal cut-off value was 3622 U/L , and the sensitivity and specificity were 90. 9％ and 86. 7％. Conclusions IOA from pancreatic stump could serve as a clinical indicator for predicting the occurrence of postoperative pancreatic fistula.